Congenital muscular dystrophy
Gene: SMCHD1

SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000101596
EnsemblGeneIds (GRCh37): ENSG00000101596
OMIM: 614982, Gene2Phenotype
SMCHD1 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review. It is a possible DD gene for Fascioscapulohumeral muscular dystrophy 2, digenic.
Created: 19 Dec 2016, 1:17 p.m.

Created: 19 Dec 2016, 1:17 p.m.

Panel version: 0.12

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

Other

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901

OMIM

614982

Clinvar variants

Variants in SMCHD1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 1

Removed Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Source was removed from SMCHD1. Mode of inheritance for gene SMCHD1 was changed from to Other

6 Feb 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901

27 Jan 2017, Gel status: 1